ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.997G>A (p.Val333Met)

gnomAD frequency: 0.00001  dbSNP: rs548088890
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002707280 SCV003552209 uncertain significance Inborn genetic diseases 2022-03-30 criteria provided, single submitter clinical testing The c.997G>A (p.V333M) alteration is located in exon 4 (coding exon 4) of the EMILIN1 gene. This alteration results from a G to A substitution at nucleotide position 997, causing the valine (V) at amino acid position 333 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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